Mutagenetix > Incidental Mutation

Incidental Mutation 'R7201:Acin1'

560332

Institutional Source

Beutler Lab

Gene Symbol

Acin1

Ensembl Gene

ENSMUSG00000022185

Gene Name

apoptotic chromatin condensation inducer 1

Synonyms

2610036I19Rik, 2610510L13Rik, Acinus

MMRRC Submission

045279-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R7201 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

54879618-54924388 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54902356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 479 (S479T)

Ref Sequence

ENSEMBL: ENSMUSP00000022793 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022793] [ENSMUST00000111484] [ENSMUST00000125265]

AlphaFold

Q9JIX8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022793
AA Change: S479T

PolyPhen 2 Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185
AA Change: S479T

Domain	Start	End	E-Value	Type
SAP	72	106	1.29e-8	SMART
coiled coil region	138	175	N/A	INTRINSIC
low complexity region	205	220	N/A	INTRINSIC
coiled coil region	259	300	N/A	INTRINSIC
low complexity region	378	396	N/A	INTRINSIC
low complexity region	414	423	N/A	INTRINSIC
low complexity region	573	603	N/A	INTRINSIC
low complexity region	631	662	N/A	INTRINSIC
low complexity region	734	743	N/A	INTRINSIC
low complexity region	760	773	N/A	INTRINSIC
low complexity region	778	792	N/A	INTRINSIC
low complexity region	803	813	N/A	INTRINSIC
internal_repeat_1	817	892	1.63e-6	PROSPERO
low complexity region	927	952	N/A	INTRINSIC
RRM	1012	1081	8.3e-2	SMART
Pfam:RSB_motif	1139	1246	5.7e-30	PFAM
low complexity region	1275	1329	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000111484
AA Change: S439T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185
AA Change: S439T

Domain	Start	End	E-Value	Type
SAP	72	106	1.29e-8	SMART
coiled coil region	138	172	N/A	INTRINSIC
coiled coil region	219	260	N/A	INTRINSIC
low complexity region	338	356	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	533	563	N/A	INTRINSIC
low complexity region	591	622	N/A	INTRINSIC
low complexity region	694	703	N/A	INTRINSIC
low complexity region	720	733	N/A	INTRINSIC
low complexity region	738	752	N/A	INTRINSIC
low complexity region	763	773	N/A	INTRINSIC
internal_repeat_1	777	852	1.21e-6	PROSPERO
low complexity region	887	912	N/A	INTRINSIC
RRM	972	1041	8.3e-2	SMART
low complexity region	1073	1123	N/A	INTRINSIC
low complexity region	1130	1168	N/A	INTRINSIC
coiled coil region	1188	1253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125265

SMART Domains

Protein: ENSMUSP00000120445
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
Blast:BRLZ	1	27	3e-9	BLAST
coiled coil region	32	66	N/A	INTRINSIC
coiled coil region	113	154	N/A	INTRINSIC
low complexity region	232	250	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185
AA Change: S424T

Domain	Start	End	E-Value	Type
SAP	18	52	1.29e-8	SMART
coiled coil region	83	120	N/A	INTRINSIC
low complexity region	151	166	N/A	INTRINSIC
coiled coil region	204	245	N/A	INTRINSIC
low complexity region	324	342	N/A	INTRINSIC
low complexity region	360	369	N/A	INTRINSIC
low complexity region	519	549	N/A	INTRINSIC
low complexity region	577	608	N/A	INTRINSIC
low complexity region	680	689	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC
low complexity region	724	738	N/A	INTRINSIC
low complexity region	749	759	N/A	INTRINSIC
low complexity region	861	886	N/A	INTRINSIC
RRM	946	1015	8.3e-2	SMART
Pfam:RSB_motif	1065	1180	1.1e-29	PFAM
low complexity region	1209	1263	N/A	INTRINSIC

Meta Mutation Damage Score

0.0647

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

99% (80/81)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Apoptosis is defined by several morphologic nuclear changes, including chromatin condensation and nuclear fragmentation. This gene encodes a nuclear protein that induces apoptotic chromatin condensation after activation by caspase-3, without inducing DNA fragmentation. This protein has also been shown to be a component of a splicing-dependent multiprotein exon junction complex (EJC) that is deposited at splice junctions on mRNAs, as a consequence of pre-mRNA splicing. It may thus be involved in mRNA metabolism associated with splicing. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	A	G	11: 84,153,300 (GRCm39)	T903A	probably benign	Het
Actr6	A	T	10: 89,548,374 (GRCm39)	D370E	probably benign	Het
Adgrl3	T	C	5: 81,872,069 (GRCm39)	F921S	probably damaging	Het
Ankmy1	A	T	1: 92,814,546 (GRCm39)	H320Q	possibly damaging	Het
Arhgef5	C	T	6: 43,250,166 (GRCm39)	Q306*	probably null	Het
Art4	A	T	6: 136,831,547 (GRCm39)	V198E	probably benign	Het
Asph	G	A	4: 9,474,917 (GRCm39)	R686W	probably damaging	Het
Atg7	A	G	6: 114,754,018 (GRCm39)	H724R	probably damaging	Het
BC034090	A	G	1: 155,117,680 (GRCm39)	V146A	probably damaging	Het
Bcl2a1d	T	A	9: 88,613,639 (GRCm39)	Q45L	probably damaging	Het
Bmal1	T	A	7: 112,884,349 (GRCm39)	M122K	probably damaging	Het
Cd28	G	T	1: 60,802,332 (GRCm39)	E84*	probably null	Het
Ceacam3	G	A	7: 16,892,163 (GRCm39)	W302*	probably null	Het
Cerkl	T	C	2: 79,163,934 (GRCm39)	N462S	probably benign	Het
Cisd2	A	T	3: 135,116,974 (GRCm39)	L39H	probably damaging	Het
Col11a1	C	A	3: 113,883,806 (GRCm39)	T225K	unknown	Het
Col15a1	A	T	4: 47,307,752 (GRCm39)	Y1178F	possibly damaging	Het
Cul4a	T	C	8: 13,192,991 (GRCm39)	S630P	probably damaging	Het
Cyp2c38	T	A	19: 39,390,220 (GRCm39)	I327F	probably damaging	Het
Cyp3a25	A	C	5: 145,928,257 (GRCm39)	S263A	probably benign	Het
Cyp3a25	T	A	5: 145,939,868 (GRCm39)	L46F	probably benign	Het
Dmrta1	T	A	4: 89,580,408 (GRCm39)	L456*	probably null	Het
Dnah12	T	C	14: 26,536,579 (GRCm39)	L2165P	probably benign	Het
Dsg1a	C	A	18: 20,461,368 (GRCm39)	S253R	probably damaging	Het
Egln2	A	C	7: 26,859,744 (GRCm39)	I323S	probably damaging	Het
Fam171b	A	G	2: 83,708,574 (GRCm39)	T359A	probably damaging	Het
Fcgr2b	G	T	1: 170,790,966 (GRCm39)	Q276K	probably benign	Het
Fcrl2	C	T	3: 87,159,934 (GRCm39)	C440Y	probably damaging	Het
Fmnl2	T	C	2: 52,963,666 (GRCm39)	V266A	unknown	Het
Glo1	A	T	17: 30,816,828 (GRCm39)	D109E	probably benign	Het
Grin3b	A	G	10: 79,809,912 (GRCm39)	R473G	possibly damaging	Het
Ica1	G	A	6: 8,644,015 (GRCm39)	L425F	probably damaging	Het
Iho1	A	T	9: 108,281,974 (GRCm39)	D571E	probably damaging	Het
Ilrun	A	C	17: 28,013,044 (GRCm39)		probably null	Het
Kcnq5	T	C	1: 21,473,099 (GRCm39)	E716G	possibly damaging	Het
Klra17	A	T	6: 129,850,306 (GRCm39)	I48K	possibly damaging	Het
Lrrc66	G	T	5: 73,787,240 (GRCm39)	Q37K	probably benign	Het
Ly6a	T	A	15: 74,868,325 (GRCm39)	T55S	probably benign	Het
Lyst	T	A	13: 13,883,885 (GRCm39)	Y2924*	probably null	Het
Lyzl6	A	G	11: 103,522,177 (GRCm39)	Y140H	probably benign	Het
Mak	T	C	13: 41,204,916 (GRCm39)	I141V	possibly damaging	Het
Mapk7	A	G	11: 61,379,998 (GRCm39)	I789T	probably benign	Het
Mgat4f	A	G	1: 134,318,206 (GRCm39)	D326G	possibly damaging	Het
Mrpl4	T	C	9: 20,918,634 (GRCm39)	I123T	probably benign	Het
Mup18	G	C	4: 61,591,573 (GRCm39)		probably null	Het
Myef2	T	C	2: 124,938,082 (GRCm39)		probably null	Het
Myh7	T	C	14: 55,228,402 (GRCm39)	T235A	possibly damaging	Het
Myo18b	C	T	5: 112,863,325 (GRCm39)	C2171Y	probably damaging	Het
Nat8	A	T	6: 85,807,877 (GRCm39)	Y85*	probably null	Het
Nyap1	A	T	5: 137,734,524 (GRCm39)	S170T	probably damaging	Het
Ogfr	AGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	AGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG	2: 180,236,887 (GRCm39)		probably benign	Het
Or10ah1-ps1	A	G	5: 143,123,553 (GRCm39)	Y157H	probably damaging	Het
Or1e32	A	G	11: 73,705,167 (GRCm39)	V247A	probably benign	Het
Or51a25	T	A	7: 102,373,692 (GRCm39)	I2F	probably benign	Het
Papss1	T	C	3: 131,305,687 (GRCm39)	L244P	probably damaging	Het
Pibf1	A	T	14: 99,433,844 (GRCm39)	D597V	probably damaging	Het
Pmpcb	T	A	5: 21,942,177 (GRCm39)	M1K	probably null	Het
Ppwd1	G	A	13: 104,343,680 (GRCm39)	P575L	probably damaging	Het
Pramel17	T	A	4: 101,695,338 (GRCm39)		probably null	Het
Prc1	A	G	7: 79,960,837 (GRCm39)	Q457R	possibly damaging	Het
Prdm10	T	C	9: 31,227,602 (GRCm39)	V69A	possibly damaging	Het
Prkdc	A	G	16: 15,516,667 (GRCm39)	I1014V	probably benign	Het
Rab3gap2	A	G	1: 184,999,388 (GRCm39)	Y999C	probably damaging	Het
Robo3	G	A	9: 37,335,626 (GRCm39)	Q539*	probably null	Het
Rps12	A	G	10: 23,661,129 (GRCm39)	Y127H	probably benign	Het
Sar1b	A	G	11: 51,679,079 (GRCm39)	D116G	probably benign	Het
Selenbp2	C	T	3: 94,609,664 (GRCm39)	P294L	probably benign	Het
Slc6a2	T	C	8: 93,722,300 (GRCm39)	Y516H	probably damaging	Het
Slit2	A	G	5: 48,394,627 (GRCm39)	N673S	probably null	Het
Snap91	A	T	9: 86,672,199 (GRCm39)		probably null	Het
Spata31h1	T	C	10: 82,127,461 (GRCm39)	M1850V	probably benign	Het
Srpk2	A	G	5: 23,712,626 (GRCm39)	F653L	possibly damaging	Het
Supt5	A	T	7: 28,016,213 (GRCm39)	S824T	probably benign	Het
Taar7a	A	G	10: 23,868,358 (GRCm39)	V341A	probably benign	Het
Tmem52	G	A	4: 155,554,778 (GRCm39)	G134R	probably damaging	Het
Ush2a	A	G	1: 188,606,951 (GRCm39)	T3949A	probably benign	Het
Usp32	GAACAAGTCCACAACAA	GAACAA	11: 84,913,681 (GRCm39)		probably null	Het
Vmn1r173	A	T	7: 23,401,583 (GRCm39)		probably benign	Het
Vmn2r118	G	A	17: 55,915,496 (GRCm39)	R485*	probably null	Het
Vwce	A	G	19: 10,615,479 (GRCm39)	E120G	possibly damaging	Het
Zfp143	T	C	7: 109,692,287 (GRCm39)	V566A	possibly damaging	Het

Other mutations in Acin1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00988:Acin1	APN	14	54,884,257 (GRCm39)	missense	probably damaging	1.00
IGL01530:Acin1	APN	14	54,881,443 (GRCm39)	missense	probably damaging	1.00
IGL02396:Acin1	APN	14	54,882,256 (GRCm39)	intron	probably benign
IGL02967:Acin1	APN	14	54,880,210 (GRCm39)	missense	possibly damaging	0.80
Protuberant	UTSW	14	54,882,740 (GRCm39)	missense	probably damaging	1.00
R0411:Acin1	UTSW	14	54,884,231 (GRCm39)	missense	probably damaging	1.00
R0723:Acin1	UTSW	14	54,902,908 (GRCm39)	missense	probably damaging	0.98
R0755:Acin1	UTSW	14	54,889,292 (GRCm39)	start codon destroyed	probably null	0.93
R0784:Acin1	UTSW	14	54,890,985 (GRCm39)	unclassified	probably benign
R1600:Acin1	UTSW	14	54,881,174 (GRCm39)	intron	probably benign
R1682:Acin1	UTSW	14	54,901,175 (GRCm39)	missense	probably damaging	1.00
R1721:Acin1	UTSW	14	54,901,995 (GRCm39)	missense	probably benign	0.01
R1756:Acin1	UTSW	14	54,902,661 (GRCm39)	missense	probably benign	0.30
R1867:Acin1	UTSW	14	54,881,718 (GRCm39)	missense	probably damaging	1.00
R1997:Acin1	UTSW	14	54,884,156 (GRCm39)	splice site	probably null
R2067:Acin1	UTSW	14	54,902,711 (GRCm39)	missense	probably damaging	1.00
R3947:Acin1	UTSW	14	54,916,790 (GRCm39)	missense	possibly damaging	0.89
R4374:Acin1	UTSW	14	54,891,351 (GRCm39)	unclassified	probably benign
R4476:Acin1	UTSW	14	54,882,787 (GRCm39)	missense	probably damaging	1.00
R4501:Acin1	UTSW	14	54,924,044 (GRCm39)	missense	probably damaging	1.00
R4547:Acin1	UTSW	14	54,883,124 (GRCm39)	missense	probably benign	0.01
R4621:Acin1	UTSW	14	54,890,900 (GRCm39)	unclassified	probably benign
R4657:Acin1	UTSW	14	54,880,504 (GRCm39)	missense	possibly damaging	0.93
R4680:Acin1	UTSW	14	54,924,215 (GRCm39)	missense	probably benign	0.00
R4696:Acin1	UTSW	14	54,880,474 (GRCm39)	intron	probably benign
R4806:Acin1	UTSW	14	54,916,685 (GRCm39)	splice site	probably benign
R4826:Acin1	UTSW	14	54,902,074 (GRCm39)	missense	probably damaging	0.97
R5096:Acin1	UTSW	14	54,916,679 (GRCm39)	intron	probably benign
R5153:Acin1	UTSW	14	54,883,070 (GRCm39)	missense	probably benign	0.25
R5223:Acin1	UTSW	14	54,880,398 (GRCm39)	frame shift	probably null
R5260:Acin1	UTSW	14	54,880,279 (GRCm39)	intron	probably benign
R5525:Acin1	UTSW	14	54,901,848 (GRCm39)	missense	possibly damaging	0.94
R5575:Acin1	UTSW	14	54,916,195 (GRCm39)	splice site	probably null
R5902:Acin1	UTSW	14	54,901,130 (GRCm39)	missense	probably benign	0.01
R6211:Acin1	UTSW	14	54,881,503 (GRCm39)	missense	probably damaging	1.00
R6524:Acin1	UTSW	14	54,882,740 (GRCm39)	missense	probably damaging	1.00
R6560:Acin1	UTSW	14	54,916,290 (GRCm39)	missense	probably benign	0.24
R6916:Acin1	UTSW	14	54,902,873 (GRCm39)	missense	probably benign	0.27
R7833:Acin1	UTSW	14	54,902,059 (GRCm39)	missense	possibly damaging	0.83
R8096:Acin1	UTSW	14	54,882,726 (GRCm39)	missense	possibly damaging	0.80
R8167:Acin1	UTSW	14	54,902,337 (GRCm39)	missense	probably benign	0.01
R8421:Acin1	UTSW	14	54,880,486 (GRCm39)	missense	unknown
R8771:Acin1	UTSW	14	54,880,496 (GRCm39)	missense	unknown
R8862:Acin1	UTSW	14	54,901,172 (GRCm39)	missense	probably benign	0.00
R9645:Acin1	UTSW	14	54,901,913 (GRCm39)	missense	probably benign	0.16
R9755:Acin1	UTSW	14	54,889,292 (GRCm39)	missense	probably damaging	0.99
X0021:Acin1	UTSW	14	54,904,558 (GRCm39)	missense	probably damaging	1.00
Z1177:Acin1	UTSW	14	54,880,207 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGTTCCTCAGTGATGCCTTTG -3'
(R):5'- TCAGTGAAGAGGAAACACCC -3'

Sequencing Primer
(F):5'- CTTTGGCAGGTGCGAACTC -3'
(R):5'- CCCACCTTTACTTACCAAGGAAG -3'

Posted On

2019-06-26